ArticleMayo Clinic proceedings2011
Mayo Genome Consortia: a genotype-phenotype resource for genome-wide association studies with an application to the analysis of circulating bilirubin levels.
Article in Mayo Clinic proceedings, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 1 of them a synthesis that pooled it.
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Who cites it
44 citing papers in PubMed, 1 synthesis or guideline pooled it, 73 citations in OpenAlex.
- Multi-ancestry meta-analysis of tobacco use disorder identifies 461 potential risk genes and reveals associations with multiple health outcomes.Nature human behaviour · 2024Pooled it
- Influence of tissue context on gene prioritization for predicted transcriptome-wide association studies.Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing · 2019Trial
- Drug-induced cis-regulatory elements in human hepatocytes affect molecular phenotypes associated with adverse reactions.Nature communications · 2025Article
- Phenotypic distinctions in depression and anxiety: a comparative analysis of comorbid and isolated cases.Psychological medicine · 2023Article
- The genetic contribution to the comorbidity of depression and anxiety: a multi-site electronic health records study of almost 178 000 people.Psychological medicine · 2023Article
- Multi-ancestry meta-analysis of tobacco use disorder prioritizes novel candidate risk genes and reveals associations with numerous health outcomes.medRxiv : the preprint server for health sciences · 2023Article
- The Michigan Genomics Initiative: A biobank linking genotypes and electronic clinical records in Michigan Medicine patients.Cell genomics · 2023Article
- Identifying the prevalence of clinically actionable drug-gene interactions in a health system biorepository to guide pharmacogenetics implementation services.Clinical and translational science · 2023Article
- Serum bilirubin and kidney function: a Mendelian randomization study.Clinical kidney journal · 2022Article
- The individual and global impact of copy-number variants on complex human traits.American journal of human genetics · 2022Article
- Machine Learning Prediction of Biomarkers from SNPs and of Disease Risk from Biomarkers in the UK Biobank.Genes · 2021Article
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- CORR® ORS Richard A. Brand Award: Disruption in Peroxisome Proliferator-Activated Receptor-γ (PPARG) Increases Osteonecrosis Risk Through Genetic Variance and Pharmacologic Modulation.Clinical orthopaedics and related research · 2019Article
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- Leveraging electronic health records to study pleiotropic effects on bipolar disorder and medical comorbidities.Translational psychiatry · 2016Article
- Quantifying the impact of chronic conditions on a diagnosis of major depressive disorder in adults: a cohort study using linked electronic medical records.BMC psychiatry · 2016Article
- Identifying genetically driven clinical phenotypes using linear mixed models.Nature communications · 2016Article
- r2VIM: A new variable selection method for random forests in genome-wide association studies.BioData mining · 2016Article
- Serum bilirubin concentration is modified by UGT1A1 haplotypes and influences risk of type-2 diabetes in the Norfolk Island genetic isolate.BMC genetics · 2015Article
- A Robust e-Epidemiology Tool in Phenotyping Heart Failure with Differentiation for Preserved and Reduced Ejection Fraction: the Electronic Medical Records and Genomics (eMERGE) Network.Journal of cardiovascular translational research · 2015Article
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Authors and funding
15 authors at 2 institutions in 1 country.
Funding
Abstract
objectiveTo create a cohort for cost-effective genetic research, the Mayo Genome Consortia (MayoGC) has been assembled with participants from research studies across Mayo Clinic with high-throughput genetic data and electronic medical record (EMR) data for phenotype extraction. PARTICIPANTS AND
methodsEligible participants include those who gave general research consent in the contributing studies to share high-throughput genotyping data with other investigators. Herein, we describe the design of the MayoGC, including the current participating cohorts, expansion efforts, data processing, and study management and organization. A genome-wide association study to identify genetic variants associated with total bilirubin levels was conducted to test the genetic research capability of the MayoGC.
resultsGenome-wide significant results were observed on 2q37 (top single nucleotide polymorphism, rs4148325; P=5.0 × 10(-62)) and 12p12 (top single nucleotide polymorphism, rs4363657; P=5.1 × 10(-8)) corresponding to a gene cluster of uridine 5'-diphospho-glucuronosyltransferases (the UGT1A cluster) and solute carrier organic anion transporter family, member 1B1 (SLCO1B1), respectively.
conclusionGenome-wide association studies have identified genetic variants associated with numerous phenotypes but have been historically limited by inadequate sample size due to costly genotyping and phenotyping. Large consortia with harmonized genotype data have been assembled to attain sufficient statistical power, but phenotyping remains a rate-limiting factor in gene discovery research efforts. The EMR consists of an abundance of phenotype data that can be extracted in a relatively quick and systematic manner. The MayoGC provides a model of a unique collaborative effort in the environment of a common EMR for the investigation of genetic determinants of diseases.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.